PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of
inheritance. The immunodeficiency is progressive with normal immune functions at birth, but …

Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome
characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early …

PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of …

Purine nucleoside phosphorylase (PNP) is a key enzyme in the purine salvage pathway.
PNP deficiency, caused by the autosomal recessive mutations in the PNP gene, can lead to …

Background Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal
recessive combined immunodeficiency. The phenotype is profound T cell deficiency with …

Purpose Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined
immunodeficiency with a heterogeneous clinical presentation. We aim to add to the …

PNP deficiency is an autosomal recessive metabolic disorder characterized by severe
combined immunodeficiency and by complex neurological symptomatology including ataxia …

Purine nucleoside phosphorylase (PNP) is an enzyme active in the purine salvage pathway.
PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe …

Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome
characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity …

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency
disorder presenting with clinically recurrent infections, failure to thrive, various neurological …